Brugada syndrome 3
MONDO:0012742Mondo
Findings
No curated finding names Brugada syndrome 3 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any Brugada syndrome in which the cause of the disease is a mutation in the CACNA1C gene.
Definition from the Mondo Disease Ontology (MONDO:0012742), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
HPO, annotations 2026-09-02
Features
6 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Atrial fibrillationHPOHP:0005110
- J waveHPOHP:0012272
- Shortened QT intervalHPOHP:0012232
- Sudden cardiac deathHPOHP:0001645
- SyncopeHPOHP:0001279
- Ventricular arrhythmiaHPOHP:0004308
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- CACNA1CHGNC:1390
- Limited · Genomics England PanelApp · Autosomal dominant · 2021
- Limited · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2019
- Disputed Evidence · Ambry Genetics · Autosomal dominant · 2020
Where it sits
Other names
4 names
Resolves to: Brugada syndrome 3
- Also called
- BRGDA3Brugada syndrome caused by mutation in CACNA1CBrugada syndrome type 3CACNA1C Brugada syndrome